Canonical Allele Identifier: CA2245700210

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221600C= , CM000679.2:g.7221600C=	GRCh38
NC_000017.10:g.7124919C= , CM000679.1:g.7124919C=	GRCh37
NC_000017.9:g.7065643C=	NCBI36
NG_007975.1:g.6767C=
NG_008391.2:g.3451G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.540C= MANE Select	ENSP00000349297.5:p.Ala180=
ENST00000322910.9:c.*495C=	ENSP00000325395.5:n.*495C=
ENST00000350303.9:c.474C=	ENSP00000344152.5:p.Ala158=
ENST00000356839.9:c.540C=	ENSP00000349297.5:p.Ala180=
ENST00000543245.6:c.609C=	ENSP00000438689.2:p.Ala203=
ENST00000577191.5:n.617C=
ENST00000577433.5:n.748C=
ENST00000577857.5:n.356C=
ENST00000579286.5:n.721C=
ENST00000579886.2:c.378C=	ENSP00000463246.1:p.Ala126=
ENST00000580365.1:n.271C=
ENST00000581378.5:c.258C=
ENST00000581562.5:n.525-352C=
ENST00000582166.1:n.521C=
ENST00000583312.5:c.540C=	ENSP00000467920.1:p.Ala180=
ENST00000583760.1:n.322C=
NM_000018.3:c.540C=	NP_000009.1:p.Ala180=
NM_001033859.2:c.474C=	NP_001029031.1:p.Ala158=
NM_001270447.1:c.609C=	NP_001257376.1:p.Ala203=
NM_001270448.1:c.312C=	NP_001257377.1:p.Ala104=
XM_006721516.2:c.540C=	XP_006721579.2:p.Ala180=
XM_011523829.1:c.540C=	XP_011522131.1:p.Ala180=
XM_011523830.1:c.540C=	XP_011522132.1:p.Ala180=
XR_934021.1:n.647C=
XR_934022.1:n.647C=
XR_934023.1:n.647C=
XM_006721516.3:c.540C=	XP_006721579.2:p.Ala180=
XM_011523829.2:c.540C=	XP_011522131.1:p.Ala180=
XM_011523830.2:c.540C=	XP_011522132.1:p.Ala180=
XM_024450741.1:c.540C=	XP_024306509.1:p.Ala180=
XR_934021.2:n.599C=
XR_934022.2:n.599C=
XR_934023.2:n.599C=
NM_000018.4:c.540C= MANE Select	NP_000009.1:p.Ala180=
NM_001033859.3:c.474C=	NP_001029031.1:p.Ala158=
NM_001270447.2:c.609C=	NP_001257376.1:p.Ala203=
NM_001270448.2:c.312C=	NP_001257377.1:p.Ala104=